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Dyskerin is a pseudouridine synthase involved in fundamental cellular processes (including rRNA and snRNA modification and telomere stabilization), whose function is altered in X-linked dyskeratosis congenita and cancer. Dyskerin role in ribosome processing was suggested to underlie the alterations...
ORGANISM(S): Homo sapiens (Human) 
2015-05-07 | PXD001274 | Pride
Domain-specific mutations in dyskerin disrupt 3´end processing of snoRNAs
Mutations in genes encoding components of the telomerase holoenzyme complex result in a spectrum of rare genetic disorders known as telomere diseases, including dyskeratosis congenita (DC). A consistent finding in DC due to pathogenic mutations in DKC1, which encodes dyskerin, is decreased steady-st...
ORGANISM(S): Homo sapiens 
2022-08-01 | GSE190173 | GEO
Genomics
Dyskerin impairment in zebrafish
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